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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-66086795-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66086795&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ASL",
"hgnc_id": 746,
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000048.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 1849,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "Argininosuccinate lyase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1395,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000048.4",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304874.14",
"protein_coding": true,
"protein_id": "NP_000039.2",
"strand": true,
"transcript": "NM_000048.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1395,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000304874.14",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000048.4",
"protein_coding": true,
"protein_id": "ENSP00000307188.9",
"strand": true,
"transcript": "ENST00000304874.14",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1395,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000395332.8",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378741.3",
"strand": true,
"transcript": "ENST00000395332.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 495,
"aa_ref": "K",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 750,
"cds_end": null,
"cds_length": 1488,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906815.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Lys223Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576874.1",
"strand": true,
"transcript": "ENST00000906815.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1425,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906826.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576885.1",
"strand": true,
"transcript": "ENST00000906826.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1425,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906828.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576887.1",
"strand": true,
"transcript": "ENST00000906828.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1395,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001024943.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020114.1",
"strand": true,
"transcript": "NM_001024943.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 464,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1395,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906801.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576860.1",
"strand": true,
"transcript": "ENST00000906801.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1392,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906807.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576866.1",
"strand": true,
"transcript": "ENST00000906807.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 459,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1380,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906823.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576882.1",
"strand": true,
"transcript": "ENST00000906823.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 449,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1350,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906824.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576883.1",
"strand": true,
"transcript": "ENST00000906824.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 444,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1335,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001024944.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020115.1",
"strand": true,
"transcript": "NM_001024944.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 444,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1335,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000395331.4",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378740.3",
"strand": true,
"transcript": "ENST00000395331.4",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 444,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1335,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906808.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576867.1",
"strand": true,
"transcript": "ENST00000906808.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 438,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1317,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906800.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Lys166Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576859.1",
"strand": true,
"transcript": "ENST00000906800.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 438,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1317,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906825.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Lys166Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576884.1",
"strand": true,
"transcript": "ENST00000906825.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 437,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 673,
"cds_end": null,
"cds_length": 1314,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906804.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576863.1",
"strand": true,
"transcript": "ENST00000906804.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 437,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 817,
"cds_end": null,
"cds_length": 1314,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906810.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576869.1",
"strand": true,
"transcript": "ENST00000906810.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 436,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1311,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906799.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576858.1",
"strand": true,
"transcript": "ENST00000906799.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 436,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1311,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906812.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Lys192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576871.1",
"strand": true,
"transcript": "ENST00000906812.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 436,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1311,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906822.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
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